Doctors’ knowledge of the acute management of Inborn Errors of Metabolism

Hawkes, Colin P.; Walsh, A Valladolid; O’Sullivan, Siobhán; Crushell, Ellen

doi:10.1111/j.1651-2227.2010.02062.x

Cited by 7 publications

(9 citation statements)

References 7 publications

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“…Patients with an IEM who come to the emergency service for a possible decompensation require urgent assessment and treatment, since the patient's life can be compromised in a few hours due to the rapidity of the decompensation in this type of disorder. These patients often bring protocols made specifically for them in their reference metabolic units [17]. Otherwise, there are metabolic guides available online that can provide useful recommendations for the management of these disorders [18].…”

Section: General Approachmentioning

confidence: 99%

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

et al. 2021

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Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.

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Section: General Approachmentioning

confidence: 99%

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

et al. 2021

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“…Given the geographical distance between centers of expertise and the home address of patients with IEMs, local or regional healthcare providers are often the ones starting the initial emergency treatment. However, it is recognized that most (pediatrics) residents/physicians consider they have insufficient knowledge to start emergency treatment for patients with IEMs in the absence of expert advice or written protocols 16 . Finally, keeping emergency letters up to date for large cohorts of patients with IEMs can be labor intensive.…”

Section: Introductionmentioning

confidence: 99%

“…However, it is recognized that most (pediatrics) residents/physicians consider they have insufficient knowledge to start emergency treatment for patients with IEMs in the absence of expert advice or written protocols. 16 Finally, keeping emergency letters up to date for large cohorts of patients with IEMs can be labor intensive.…”

Section: Introductionmentioning

confidence: 99%

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net

Rossi

Hoogeveen

Lubout

et al. 2021

J of Inher Metab Disea

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Patients with inborn errors of metabolism causing fasting intolerance can experience acute metabolic decompensations. Long‐term data on outcomes using emergency letters are lacking. This is a retrospective, observational, single‐center study of the use of emergency letters based on a generic emergency protocol in patients with hepatic glycogen storage diseases (GSD) or fatty acid oxidation disorders (FAOD). Data on hospital admissions, initial laboratory results, and serious adverse events were collected. Subsequently, the website http://www.emergencyprotocol.net was generated in the context of the CONNECT MetabERN eHealth project following multiple meetings, protocol revisions, and translations. Representing 470 emergency protocol years, 127 hospital admissions were documented in 54/128 (42%) patients who made use of emergency letters generated based on the generic emergency protocol. Hypoglycemia (here defined as glucose concentration < 3.9 mmol/L) was reported in only 15% of hospital admissions and was uncommon in patients with ketotic GSD and patients with FAOD aged >5 years. Convulsions, coma, or death was not documented. By providing basic information, emergency letters for individual patients with hepatic GSD or the main FAOD can be generated at http://www.emergencyprotocol.net, in nine different languages. Generic emergency protocols are safe and easy for home management by the caregivers and the first hour in‐hospital management to prevent metabolic emergencies in patients with hepatic GSD and medium‐chain Acyl CoA dehydrogenase deficiency. The website http://www.emergencyprotocol.net is designed to support families and healthcare providers to generate personalized emergency letters for patients with hepatic GSD and the main FAOD.

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“…Furthermore, given the geographical distance between centers of expertise and IEM patients' home addresses, local or regional physicians are often the healthcare providers who will start initial emergency treatment. It is recognized that most pediatric residents feel to have insufficient knowledge to start emergency treatment of IEMs in the absence of expert advice or written protocols (18).…”

Section: Introductionmentioning

confidence: 99%

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center chart review of 128 patients

Hoogeveen¹,

Amerongen²,

Weynschenk³

et al. 2020

Preprint

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Background - Patients with inborn errors of metabolism causing fasting intolerance are at risk of acute metabolic decompensations. Disease specific emergency protocols are widely available, but long-term data on safety and efficacy outcomes are lacking. We hypothesized that a generic emergency protocol can be safe and effective in patients with inborn errors of metabolism causing fasting intolerance. Results - We retrospectively evaluated our generic emergency protocol in 128 patients with a hepatic glycogen storage disease or fatty acid oxidation defect between February 1, 2014 and April 24, 2019. In total, 127 hospital admissions were documented in 54 out of 128 patients (42%). Hypoglycemia (glucose concentration <3.9 mmol/l) was reported in 15% of admissions. Hypoglycemia at admission was uncommon in patients with ketotic glycogen storage disease and verbal patients with a fatty acid oxidation defect. Convulsions, coma or death were not reported. Conclusions - Generic emergency protocols can be safe and effective for home management by the caregivers and the first hour in-hospital management of metabolic emergencies in patients with hepatic glycogen storage disease and medium-chain Acyl CoA dehydrogenase deficiency.

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Doctors’ knowledge of the acute management of Inborn Errors of Metabolism

Cited by 7 publications

References 7 publications

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center chart review of 128 patients

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